NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys) AND Autosomal dominant polycystic liver disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001844921.1
Allele description [Variation Report for NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys)]
NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys)
Condition(s)
- Name:
- Autosomal dominant polycystic liver disease
- Synonyms:
- Isolated polycystic liver disease; Isolated autosomal dominant polycystic liver disease; Congenital cystic disease of liver; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0000447; MedGen: C0158683; OMIM: PS174050; Human Phenotype Ontology: HP:0006557
Assertion and evidence details
Last Updated: Dec 24, 2023